Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE We have subjected 41 renal tumors, including VHL gene mutation-negative clear cell renal cell carcinoma (RCC), papillary RCC, and chromophobe RCC, to immunohistochemistry of transcription factor E3 (TFE3) and TFEB. 21424937 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE To assess the role of elongin B/C, Rbx1 and HIF-1alpha in RCC tumorigenesis we (a) mapped the genes to chromosomes 8q(cen) (elongin C), 16p13.3 (elongin B) and 22q11.2 (Rbx1) by FISH, monochromosomal somatic cell hybrid panel screening and in silico GenBank homology searching; (b) determined the genomic organisation of elongin C (by direct sequencing of PAC clones), Rbx1 and elongin B (by GenBank homology searching); and (c) performed mutation analysis of exons comprising the coding regions of elongins B, C and Rbx1 and the oxygen-dependent degradation domain of HIF-1alpha by SSCP screening and direct sequencing in 35 sporadic clear cell RCC samples without VHL gene inactivation and in 13 individuals with familial non-VHL clear cell RCC. 11526493 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. 10766184 2000
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE In this study, we identified mutations in the von Hippel-Lindau gene (VHL) in patients with sporadic clear cell renal carcinoma and analyzed the relationship between these VHL mutations and VHL protein (pVHL) expression levels. 12883707 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE This study therefore shows how loss of heterozygosity, hallmarked by VHL deletion in ccRCC, may uniquely shape tumor metabolism. 24550497 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE In addition, we detected mutation of VHL gene in clear cell RCC, but found no VHL gene mutation in clear cell papillary RCC. 20952286 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE We found two groups of clear cell renal cell carcinoma: one with reduced VHL mRNA and increased VEGF mRNA, and the other without significantly altered VHL or VEGF mRNAs. 10475065 1999
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE VHL and PBRM1, both located at chromosome 3p, are 2 major genes mutated at high frequency but apart from these aberrations, the mutational landscape in ccRCC is largely undefined. 24992170 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE This confirms that inactivation of the VHL gene is not always required to develop CRCC, and that (an)other suppressor gene(s) on 3p could be involved. 15756303 2005
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE The interactions among APOE, VHL and MTHFR genes could increase the risk of RCC. 26191297 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Clear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2). 26452128 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE VHL gene mutation analysis also provides a basis for investigating the genetic basis of familial phaeochromocytoma and renal cell carcinoma, and apparently isolated retinal angiomas. 9681854 1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE RCC is frequently caused by VHL gene mutations, which contribute to 75% of all RCCs. 25957660 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Especially, renal cell carcinoma (RCC) is often associated with von Hippel-Lindau (VHL) gene mutations, leading to up-regulation of HIFs. 28110220 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE The characterization of the VHL gene should ultimately have important implications not only for patients with VHL, but also for a much larger number of cancer patients in the general population, afflicted with the sporadic counterparts of VHL-associated tumor types, such as renal cell carcinoma. 2039154 1991
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Although CA XII expression levels tended to be lower in RCC cell lines without the VHL mutation and in transformants of the wild-type VHL gene, the results were not conclusive. 12384800 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the von Hippel-Lindau (VHL) gene constitute an established risk factor contributing to 75% of total reported cases of RCC. 21304051 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE As an application of this resource, we discovered RCC GCN edges and modules that were associated with genetic lesions in known RCC driver genes, including VHL, a common initiating clear cell RCC (ccRCC) genetic lesion, and PBRM1 and BAP1 which are early genetic lesions in the Braided Cancer River Model (BCRM). 30814637 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Down-regulation of C12orf59 is associated with a poor prognosis and VHL mutations in renal cell carcinoma. 26758419 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Clear cell renal cell carcinoma (CCRCC) is the most common renal carcinoma and it is often associated with von Hippel-Lindau disease (VHL) gene mutations. 16627979 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE The four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in ∼80%), PBRM1 (∼50%), BAP1 (∼15%), and SETD2 (∼15%). 23832661 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Quantitative RT-PCR and western blot analysis of ccRCC with known VHL mutation status and normal matched tissues as well as RNA in situ hybridization on a tissue microarray (TMA) confirmed a decrease of PTPRJ expression in more than 80% of ccRCCs, but in only 12% of papillary RCCs. ccRCC patients with no or reduced PTPRJ mRNA expression had a less favourable outcome than those with a normal expression status (p = 0.05). 23007793 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene. 12781449 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Genetic changes underlying clear cell renal cell carcinoma (ccRCC) include alterations in genes controlling cellular oxygen sensing (for example, VHL) and the maintenance of chromatin states (for example, PBRM1). 23792563 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE DNA and RNA from 13 standardized and seven non-standardized frozen and 12 formalin-fixed, paraffin-embedded (FFPE) clear cell renal cell carcinoma specimens (>9 years old) served to test the robustness of the WGA and WTA products by reidentifying von Hippel-Lindau (VHL) gene mutations known to exist in these samples. 23007645 2012